Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Ana Grangeia"'
Publikováno v:
Acta Médica Portuguesa (2024)
N/a.
Externí odkaz:
https://doaj.org/article/5333277e0cd34340921380c13cf701db
Publikováno v:
Anais Brasileiros de Dermatologia, Vol 99, Iss 3, Pp 448-449 (2024)
Externí odkaz:
https://doaj.org/article/b719fc240a584d5d8ea16efa7c1303d9
Autor:
Rafaela Nicolau, Tiago Beirão, Francisca Guimarães, Francisca Aguiar, Sara Ganhão, Mariana Rodrigues, Ana Grangeia, Iva Brito
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 21, Iss 1, Pp 1-5 (2023)
Abstract Background Primary Hypertrophic Osteoarthropathy (PHO), also known as Touraine-Solente-Gole Syndrome, is a rare, multisystemic autosomal recessive disorder caused by pathogenic variants in the 15-hydroxyprostaglandin dehydrogenase (HPGD) or
Externí odkaz:
https://doaj.org/article/a9b4361cf2a14cfa8078e11141a284eb
Publikováno v:
Journal of Investigative Medicine High Impact Case Reports, Vol 11 (2023)
Pierpont syndrome is a rare and recently described multiple congenital anomaly syndrome, classically characterized by global developmental delay, distinctive facial dysmorphic features, and abnormal fat distribution in distal limbs. Only few cases we
Externí odkaz:
https://doaj.org/article/74d98e22cecc461db5c85eb1199b1081
Autor:
Carolina Madeira, Gonçalo Godinho, Ana Grangeia, Manuel Falcão, Renato Silva, Ângela Carneiro, Elisete Brandão, Augusto Magalhães, Fernando Falcão-Reis, Sérgio Estrela-Silva
Publikováno v:
Case Reports in Ophthalmology, Vol 12, Iss 3, Pp 749-760 (2021)
We report the clinical phenotype and genetic findings of two variants in PDE6C underlying achromatopsia (ACHM). Four patients with the variant c.1670G>A in exon 13 of the PDE6C gene were identified. Additionally, one had compound heterozygous genotyp
Externí odkaz:
https://doaj.org/article/1df5464919914fffa32f9340b9f7ecf7
Autor:
Rafaela Nicolau, Tiago Beirão, Francisca Guimarães, Francisca Aguiar, Sara Ganhão, Mariana Rodrigues, Ana Grangeia, Iva Brito
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 21, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/9bb9f885aa3f4552832aee3702b57bb2
Publikováno v:
Neuropediatrics. 53:265-273
Copy number variants (CNVs) are a major contribution to genome variability, and the presence of CNVs on chromosome 1 is a known cause of morbidity. The main objective of this study was to contribute to chromosome 1 disease map, through the analysis o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55ae65e38de299685795fa39edb4c83c
https://doi.org/10.1055/s-0042-1754162
https://doi.org/10.1055/s-0042-1754162
Publikováno v:
American Journal of Medical Genetics Part A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de01421fdfff46da049dff913b6a3f4b
https://doi.org/10.1002/ajmg.a.63242
https://doi.org/10.1002/ajmg.a.63242
Publikováno v:
Acta Neurologica Scandinavica. 146:152-159
Congenital myopathies (CM) were traditionally classified according to the muscle histopathological features, but in recent years, molecular diagnosis has become increasingly important. CM may present a wide phenotype variability, and while adult-onse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d971efd463eee79d8521566cead923a
https://doi.org/10.1111/ane.13632
https://doi.org/10.1111/ane.13632